Description of Duchenne Muscular Dystrophy:
Duchenne Muscular Dystrophy (DMD) primarily affects young boys. It causes weakness in the muscle degenerating over time. The problem usually starts in the legs and then spreads to the muscles of the other parts of the body. It is the most severe form of Muscular Dystrophy (MD). Only about 8,000 boys and young men have it in the U.S. A milder form of this disorder occurs in females very rarely.
Inheritance Pattern of DMD:
The gene for DMD is found on the X chromosome. It produces a protein called dystrophin. Dystrophin keeps the muscles strong and working effectively. Without it the muscles don't function properly and they become weak including the heart. Usually the mother passes the DMD on to the offspring. Most of the time only boys get it because of their one X chromosome is defective and they will have DMD. In girls if they only have one normal chromosome thats still enough to regulate the dystrophin enough for the bodies muscles to still regulate. They will still be a carrier of DMD. Sons have a 50% chance of getting the disease and girls have a 50% chance of being carriers.
Symptoms of DMD:
Treatment/ Prognosis of DMD:
Their is no known cure for DMD. The treatments for DMD is targeted to maximize the quality of life. Gene therapy may be available in the future. People with this disease are told to remain active since laying in bed can worsen the disease. Physical therapy can strengthen the muscles of people with DMD. Things such as wheelchairs may improve mobility and make it easier for them to care for themselves. Death usually occurs around the age of 25 due to lung problems.
Incidence/ Frequency of DMD:
This disease occurs 1 out of every 3500 live male births.
Questions:
What is the frequency for DMD?
What is a treatment for DMD that may be availible in the future?
What are 3 symptoms of DMD?
Duchenne Muscular Dystrophy (DMD) primarily affects young boys. It causes weakness in the muscle degenerating over time. The problem usually starts in the legs and then spreads to the muscles of the other parts of the body. It is the most severe form of Muscular Dystrophy (MD). Only about 8,000 boys and young men have it in the U.S. A milder form of this disorder occurs in females very rarely.
Inheritance Pattern of DMD:
The gene for DMD is found on the X chromosome. It produces a protein called dystrophin. Dystrophin keeps the muscles strong and working effectively. Without it the muscles don't function properly and they become weak including the heart. Usually the mother passes the DMD on to the offspring. Most of the time only boys get it because of their one X chromosome is defective and they will have DMD. In girls if they only have one normal chromosome thats still enough to regulate the dystrophin enough for the bodies muscles to still regulate. They will still be a carrier of DMD. Sons have a 50% chance of getting the disease and girls have a 50% chance of being carriers.
Symptoms of DMD:
- Gait problems
- Waddling gait
- Falls
- Difficulty standing up
- Difficulting climbing stairs
- Difficulty descending stairs
- Lordosis
- Firm-looking muscles
- Enlarged muscles
- Enlarged calf muscles
- Progressive muscle degeneration
- Progressive muscle weakness
- Progressive muscle wasting
- Frequent falls
- Difficulty standing from sitting position
- Difficulty climbing stairs
- Progressive spinal curvature
- Wasted pelvic muscles
- Wasted shoulder muscles
- Wasted thigh muscles
- Wasted trunk muscles
- Wasted arm muscles
- Joint contractures
- Cardiomyopathy
- Intellectual impairmen
Treatment/ Prognosis of DMD:Their is no known cure for DMD. The treatments for DMD is targeted to maximize the quality of life. Gene therapy may be available in the future. People with this disease are told to remain active since laying in bed can worsen the disease. Physical therapy can strengthen the muscles of people with DMD. Things such as wheelchairs may improve mobility and make it easier for them to care for themselves. Death usually occurs around the age of 25 due to lung problems.
Incidence/ Frequency of DMD:
This disease occurs 1 out of every 3500 live male births.
Questions:
What is the frequency for DMD?
What is a treatment for DMD that may be availible in the future?
What are 3 symptoms of DMD?
Websites:
http://www.mda.org/disease/DMD.html
http://www.healthline.com/adamcontent/duchenne-muscular-dystrophy
http://www.nlm.nih.gov/medlineplus/ency/article/000705.htm